Canonical Allele Identifier: CA7660090
Gene: CYP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs755371436
ExAC: 15:75047247 CGGTG / C
gnomAD v2: 15-75047247-CGGTG-C
gnomAD v4: 15-74754906-CGGTG-C
MyVariant Identifiers: chr15:g.75047248_75047251del (hg19) chr15:g.74754907_74754910del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74754907_74754910del , CM000677.2:g.74754907_74754910del GRCh38
NC_000015.9:g.75047248_75047251del , CM000677.1:g.75047248_75047251del GRCh37
NC_000015.8:g.72834301_72834304del NCBI36
NG_008431.1:g.37366_37369del
NG_008431.2:g.37366_37369del
NG_061543.1:g.11063_11066del

Transcript Alleles

HGVS Amino-acid change
ENST00000343932.5:c.1370_1373del MANE Select ENSP00000342007.4:p.Arg457LeufsTer30
ENST00000343932.4:c.1370_1373del ENSP00000342007.4:p.Arg457LeufsTer30
NM_000761.4:c.1370_1373del NP_000752.2:p.Arg457LeufsTer30
NM_000761.5:c.1370_1373del MANE Select NP_000752.2:p.Arg457LeufsTer30
Search 100 bp 5'
Search 100 bp 3'